DDrare: Database of Drug Development for Rare Diseases

告示番号	疾患名（ページ内リンク）	臨床試験数
51	全身性強皮症	1
86	肺動脈性肺高血圧症	1
124	皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症	1
240	フェニルケトン尿症	16
299	嚢胞性線維症	1

No.	TrialID	Date_ enrollment	Date_ registration	Public_title	Scientific_title	Condition	Intervention	Primary_ sponsor	Secondary_ sponsor	Recruitment_ Status	Inclusion_ agemin	Inclusion_ agemax	Inclusion_ gender	Target_ size	Phase	Countries
1	NCT02530996 (ClinicalTrials.gov)	January 1, 2016	29/7/2015	Systemic Sclerosis (SSc) Vasculopathy: Improved Clinical Monitoring and Treatment	Systemic Sclerosis (SSc) Vasculopathy: Improved Clinical Monitoring and Treatment	Rheumatologic Disease	Drug: BH4;Other: Vasculopathy assessment;Drug: Placebo	VA Office of Research and Development	NULL	Completed	18 Years	95 Years	All	32		United States

No.	TrialID	Date_ enrollment	Date_ registration	Public_title	Scientific_title	Condition	Intervention	Primary_ sponsor	Secondary_ sponsor	Recruitment_ Status	Inclusion_ agemin	Inclusion_ agemax	Inclusion_ gender	Target_ size	Phase	Countries
1	NCT00435331 (ClinicalTrials.gov)	March 2008	12/2/2007	6R-BH4 Pulmonary Arterial Hypertension Study	A Phase 1, Multicenter, Open-label, Dose-escalation Study to Evaluate the Safety and Efficacy of 6R-BH4 in Subjects With Pulmonary Arterial Hypertension	Pulmonary Arterial Hypertension	Drug: sapropterin dihydrochloride (6R-BH4)	Vanderbilt University	National Institutes of Health (NIH);BioMarin Pharmaceutical	Completed	18 Years	N/A	Both	14	Phase 1	United States

No.	TrialID	Date_ enrollment	Date_ registration	Public_title	Scientific_title	Condition	Intervention	Primary_ sponsor	Secondary_ sponsor	Recruitment_ Status	Inclusion_ agemin	Inclusion_ agemax	Inclusion_ gender	Target_ size	Phase	Countries
1	EUCTR2007-004370-55-IT (EUCTR)	14/12/2007	11/12/2007	Effects of tetrahydrobiopterin (6R-BH4) on flow-mediated dilation in CADASIL patients: a randomised controlled trial - CADASIL BH4	Effects of tetrahydrobiopterin (6R-BH4) on flow-mediated dilation in CADASIL patients: a randomised controlled trial - CADASIL BH4	CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), is a rare autosomal dominant disorder characterized by recurrent strokes starting in mid-adulthood and leading in some to severe motor disability with pseudobulbar palsy and dementia of the subcortical type MedDRA version: 9.1;Level: HLGT;Classification code 10008804;Term: Chromosomal abnormalities and abnormal gene carriers	Product Name: Phenoptin Product Code: 6R-BH4 INN or Proposed INN: sapropterin	AZIENDA OSPEDALIERA OSPEDALE NIGUARDA CA' GRANDA (A.O. DI RILIEVO NAZIONALE)	NULL	Not Recruiting			Female: yes Male: yes			Italy

No.	TrialID	Date_ enrollment	Date_ registration	Public_title	Scientific_title	Condition	Intervention	Primary_ sponsor	Secondary_ sponsor	Recruitment_ Status	Inclusion_ agemin	Inclusion_ agemax	Inclusion_ gender	Target_ size	Phase	Countries
1	NCT04227080 (ClinicalTrials.gov)	June 2020	10/1/2020	BH4 Responsiveness in PAH Deficiency PKU Patients	To Evaluate BH4 Responsiveness in PAH Deficiency PKU Patients Who Failed to Achieve 30% Blood Phe Reduction Within 24-hour BH4 Loading Test by Extending the Period of BH4 Response Test: A Pilot Study in Taiwan	Pku Phenylketonuria;PAH Deficiency	Drug: BH4	Taipei Veterans General Hospital, Taiwan	BioMarin Pharmaceutical	Not yet recruiting	N/A	N/A	All	40	Phase 4	NULL
2	NCT03519711 (ClinicalTrials.gov)	June 24, 2018	11/4/2018	A Study of CNSA-001 in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia	A Phase 1/2, Open-Label, Randomized Parallel Arm, Intra-patient Dose Escalation Study to Evaluate the Safety, Pharmacokinetics and Preliminary Efficacy of CNSA-001(Sepiapterin) in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia	BH4 Deficiency;Hyperphenylalaninemia	Drug: CNSA-001	PTC Therapeutics	NULL	Active, not recruiting	12 Months	N/A	All	6	Phase 1;Phase 2	United States;Germany
3	NCT02677870 (ClinicalTrials.gov)	January 2018	26/1/2016	The Effectiveness of Kuvan in Amish PKU Patients	The Effectiveness of High-Dose Synthetic BH4 (Saproterin Dihydrochloride or Kuvan) in Amish PKU Patients	Phenylketonuria	Drug: saproterin dihydrochloride;Other: Diet treatment	University Hospitals Cleveland Medical Center	BioMarin Pharmaceutical	Recruiting	2 Years	60 Years	All	25	Phase 4	United States
4	NCT03864029 (ClinicalTrials.gov)	October 10, 2017	22/2/2019	Retrospective Observational Safety Effectiveness With Kuvan in hpA	An Observational Study Research to Collect the Effectiveness and Safety Data of KUVAN® Retrospectively in Chinese Subjects With Hyperphenylalaninemia (HPA) Caused by Tetrahydrobiopterin (BH4) Deficiency	Tetrahydrobiopterin Deficiency	Drug: KUVAN	BioMarin Pharmaceutical	Quintiles, Inc.	Completed	N/A	N/A	All	26		China
5	NCT01395394 (ClinicalTrials.gov)	June 2011	23/6/2011	Phenylketonuria, Oxidative Stress, and BH4	The Ability of Kuvan® (Sapropterin Dihydrochloride) to Prevent Meal-induced Lipid Peroxidation and Endothelial Dysfunction in Patients With Phenylketonuria: a Pilot Study	Phenylketonuria	Drug: Kuvan;Other: Meal Challenge	Emory University	NULL	Terminated	10 Years	45 Years	All	12	Phase 2	United States
No.	TrialID	Date_ enrollment	Date_ registration	Public_title	Scientific_title	Condition	Intervention	Primary_ sponsor	Secondary_ sponsor	Recruitment_ Status	Inclusion_ agemin	Inclusion_ agemax	Inclusion_ gender	Target_ size	Phase	Countries
6	EUCTR2010-019767-11-AT (EUCTR)	08/09/2010	10/08/2010	Ö-PKU 1 – Evaluation of a Test for the identication of BH4 responsive PKU patients - Ö-PKU1	Ö-PKU 1 – Evaluation of a Test for the identication of BH4 responsive PKU patients - Ö-PKU1	Hyperphenylalaninaemia (HPA) in adult and paediatric patients of 4 years of age and over with phenylketonuria (PKU).	Trade Name: Kuvan	Graz Medical University	NULL	Not Recruiting			Female: yes Male: yes			Austria
7	NCT00986973 (ClinicalTrials.gov)	March 2010	28/9/2009	Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy	A Pilot Study of FDG PET Findings in Patients With Phenylketonuria Before and After BH4 Supplementation	Phenylketonuria	Drug: Sapropterin	Children's Hospital of Philadelphia	NULL	Completed	18 Years	50 Years	All	6	N/A	United States
8	NCT00688844 (ClinicalTrials.gov)	October 2008	29/5/2008	Nutritional and Neurotransmitter Changes in PKU Subjects on BH4	Baseline Evaluation and Long-term Follow-up of Nutritional Status and Neurotransmitter Concentrations in Phenylketonuria Patients Initiating Treatment With Sapropterin Dihydrochloride (KuvanTM), a Tetrahydrobiopterin Analog.	Phenylketonuria	Drug: KuvanTM Therapy	Emory University	BioMarin Pharmaceutical;Atlanta Clinical and Translational Science Institute	Completed	4 Years	N/A	All	58	N/A	United States
9	NCT00432822 (ClinicalTrials.gov)	February 2007	7/2/2007	Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety	Double-Blind, Placebo Controlled, Multicentre Study With an Open Label Extension to Evaluate the Efficacy and Safety of Tetrahydrobiopterin (BH4) in Children and Adolescents With Hyperphenylalaninemia Caused by Phenylalanine Hydroxylase Deficiency	Phenylalanine Hydroxylase Deficiencies	Drug: tetrahydrobiopterin (BH4)	Orphanetics Pharma Entwicklungs GmbH	NULL	Terminated	N/A	18 Years	Both	50	Phase 2;Phase 3	NULL
10	NCT00355264 (ClinicalTrials.gov)	August 2006	19/7/2006	Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency	Phase 2, Multicenter, Open Label Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to Primary BH4 Deficiency	Tetrahydrobiopterin Deficiencies;Hyperphenylalaninemia, Non-Phenylketonuric	Drug: Phenoptin	BioMarin Pharmaceutical	NULL	Completed	N/A	N/A	All	12	Phase 2	United States;Germany
No.	TrialID	Date_ enrollment	Date_ registration	Public_title	Scientific_title	Condition	Intervention	Primary_ sponsor	Secondary_ sponsor	Recruitment_ Status	Inclusion_ agemin	Inclusion_ agemax	Inclusion_ gender	Target_ size	Phase	Countries
11	EUCTR2005-003778-13-DE (EUCTR)	13/07/2006	14/06/2006	A Phase 2, Multicenter, Open-label Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Hyperphenylalaninemia Due to Primary BH4 Deficiency	A Phase 2, Multicenter, Open-label Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Hyperphenylalaninemia Due to Primary BH4 Deficiency	Phenylketonuria (PKU) MedDRA version: 8.1;Level: LLT;Classification code 10034872;Term: Phenylketonuria	Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin Other descriptive name: saproterin dihydrochloride	BioMarin Pharmaceutical Inc	NULL	Not Recruiting			Female: yes Male: yes	15	Phase 2	Germany
12	EUCTR2006-000648-15-AT (EUCTR)	08/06/2006	05/04/2006	A double-blind, placebo-controlled, multicentre study with an open-label extension to evaluate the efficacy and safety of tetrahydrobiopterin (BH4) in children and adolescents with hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency	A double-blind, placebo-controlled, multicentre study with an open-label extension to evaluate the efficacy and safety of tetrahydrobiopterin (BH4) in children and adolescents with hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency	Hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. Phenotypes: classic phenylketonuria (PKU), mild PKU (MPK) or mild hyperphenylalaninemia (HPA). MedDRA version: 81;Level: LLT;Classification code 10034873	Product Name: tetrahydrobiopterin Product Code: BH4 INN or Proposed INN: Sapropterin Other descriptive name: n.a.	ORPHANETICS Pharma Entwicklungs- GmbH	NULL	Authorised-recruitment may be ongoing or finished			Female: yes Male: yes	75		Austria
13	NCT00260000 (ClinicalTrials.gov)	April 2005	30/11/2005	Study of BH4, a New and Simple Treatment of Mild PKU	Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation	Phenylketonuria	Drug: 5,6,7,8-tetrahydrobiopterin	The Kennedy Institute-National Eye Clinic	Sygekassernes Helsefond	Completed	8 Years	N/A	Both	15	Phase 2	Denmark
14	NCT00244218 (ClinicalTrials.gov)	April 2005	25/10/2005	Response to Phenylketonuria to Tetrahydrobiopterin (BH4)	Response to Phenylketonuria to Tetrahydrobiopterin (BH4)	Phenylketonuria	Drug: tetrahydrobiopterin (BH4)	FDA Office of Orphan Products Development	NULL	Recruiting	10 Years	N/A	Both	36	Phase 1	United States
15	NCT00104247 (ClinicalTrials.gov)	March 2005	24/2/2005	Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels	A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels	Phenylketonurias	Drug: sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin	BioMarin Pharmaceutical	NULL	Completed	8 Years	N/A	All	89	Phase 3	United States
No.	TrialID	Date_ enrollment	Date_ registration	Public_title	Scientific_title	Condition	Intervention	Primary_ sponsor	Secondary_ sponsor	Recruitment_ Status	Inclusion_ agemin	Inclusion_ agemax	Inclusion_ gender	Target_ size	Phase	Countries
16	EUCTR2004-002365-21-DK (EUCTR)	03/11/2004	09/07/2008	Trial with BH4, a new and simple treatment of phenylketonuria, PKU - BH4 and PKU	Trial with BH4, a new and simple treatment of phenylketonuria, PKU - BH4 and PKU	PKU, phenylketonuria, is a rare, inherited metabolic disease that results in mental retardation if not a very strict low-protein diet is started within the first weeks of life. The conversion of phenylalanine to tyrosine is defect, phe accumulates and leads to brain damage. There are different degrees of severity, reflecting the spectrum of mutant genes. BH4, tetrahydrobiopterin, is co-enzym for the conversion of phe to tyrosine. BH4 can lower phe in some patients with milder forms of PKU.	Product Name: tetrahydrobiopterin	John F. Kennedy Institute	NULL	Not Recruiting			Female: yes Male: yes			Denmark

No.

TrialID

Date_
enrollment

Date_
registration

Public_title

Scientific_title

Condition

Intervention

Primary_
sponsor

Secondary_
sponsor

Recruitment_
Status

Inclusion_
agemin

Inclusion_
agemax

Inclusion_
gender

Target_
size

Phase

Countries

NCT04227080
(ClinicalTrials.gov)

June 2020

10/1/2020

BH4 Responsiveness in PAH Deficiency PKU Patients

To Evaluate BH4 Responsiveness in PAH Deficiency PKU Patients Who Failed to Achieve 30% Blood Phe Reduction Within 24-hour BH4 Loading Test by Extending the Period of BH4 Response Test: A Pilot Study in Taiwan

Pku Phenylketonuria;PAH Deficiency

Drug: BH4

Taipei Veterans General Hospital, Taiwan

BioMarin Pharmaceutical

Not yet recruiting

N/A

All

Phase 4

NULL

NCT03519711
(ClinicalTrials.gov)

June 24, 2018

11/4/2018

A Study of CNSA-001 in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia

A Phase 1/2, Open-Label, Randomized Parallel Arm, Intra-patient Dose Escalation Study to Evaluate the Safety, Pharmacokinetics and Preliminary Efficacy of CNSA-001(Sepiapterin) in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia

BH4 Deficiency;Hyperphenylalaninemia

Drug: CNSA-001

PTC Therapeutics

NULL

Active, not recruiting

12 Months

N/A

All

Phase 1;Phase 2

United States;Germany

NCT02677870
(ClinicalTrials.gov)

January 2018

26/1/2016

The Effectiveness of Kuvan in Amish PKU Patients

The Effectiveness of High-Dose Synthetic BH4 (Saproterin Dihydrochloride or Kuvan) in Amish PKU Patients

Phenylketonuria

Drug: saproterin dihydrochloride;Other: Diet treatment

University Hospitals Cleveland Medical Center

BioMarin Pharmaceutical

Recruiting

2 Years

60 Years

All

Phase 4

United States

NCT03864029
(ClinicalTrials.gov)

October 10, 2017

22/2/2019

Retrospective Observational Safety Effectiveness With Kuvan in hpA

An Observational Study Research to Collect the Effectiveness and Safety Data of KUVAN® Retrospectively in Chinese Subjects With Hyperphenylalaninemia (HPA) Caused by Tetrahydrobiopterin (BH4) Deficiency

Tetrahydrobiopterin Deficiency

Drug: KUVAN

BioMarin Pharmaceutical

Quintiles, Inc.

Completed

N/A

All

China

NCT01395394
(ClinicalTrials.gov)

June 2011

23/6/2011

Phenylketonuria, Oxidative Stress, and BH4

The Ability of Kuvan® (Sapropterin Dihydrochloride) to Prevent Meal-induced Lipid Peroxidation and Endothelial Dysfunction in Patients With Phenylketonuria: a Pilot Study

Phenylketonuria

Drug: Kuvan;Other: Meal Challenge

Emory University

NULL

Terminated

10 Years

45 Years

All

Phase 2

United States

No.

TrialID

Date_
enrollment

Date_
registration

Public_title

Scientific_title

Condition

Intervention

Primary_
sponsor

Secondary_
sponsor

Recruitment_
Status

Inclusion_
agemin

Inclusion_
agemax

Inclusion_
gender

Target_
size

Phase

Countries

EUCTR2010-019767-11-AT
(EUCTR)

08/09/2010

10/08/2010

Ö-PKU 1 – Evaluation of a Test for the identication of BH4 responsive PKU patients - Ö-PKU1

Hyperphenylalaninaemia (HPA) in adult and paediatric patients of 4 years of age and over with phenylketonuria (PKU).

Trade Name: Kuvan

Graz Medical University

NULL

Not Recruiting

Female: yes
Male: yes

Austria

NCT00986973
(ClinicalTrials.gov)

March 2010

28/9/2009

Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy

A Pilot Study of FDG PET Findings in Patients With Phenylketonuria Before and After BH4 Supplementation

Phenylketonuria

Drug: Sapropterin

Children's Hospital of Philadelphia

NULL

Completed

18 Years

50 Years

All

N/A

United States

NCT00688844
(ClinicalTrials.gov)

October 2008

29/5/2008

Nutritional and Neurotransmitter Changes in PKU Subjects on BH4

Baseline Evaluation and Long-term Follow-up of Nutritional Status and Neurotransmitter Concentrations in Phenylketonuria Patients Initiating Treatment With Sapropterin Dihydrochloride (KuvanTM), a Tetrahydrobiopterin Analog.

Phenylketonuria

Drug: KuvanTM Therapy

Emory University

BioMarin Pharmaceutical;Atlanta Clinical and Translational Science Institute

Completed

4 Years

N/A

All

N/A

United States

NCT00432822
(ClinicalTrials.gov)

February 2007

7/2/2007

Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety

Double-Blind, Placebo Controlled, Multicentre Study With an Open Label Extension to Evaluate the Efficacy and Safety of Tetrahydrobiopterin (BH4) in Children and Adolescents With Hyperphenylalaninemia Caused by Phenylalanine Hydroxylase Deficiency

Phenylalanine Hydroxylase Deficiencies

Drug: tetrahydrobiopterin (BH4)

Orphanetics Pharma Entwicklungs GmbH

NULL

Terminated

N/A

18 Years

Both

Phase 2;Phase 3

NULL

NCT00355264
(ClinicalTrials.gov)

August 2006

19/7/2006

Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency

Phase 2, Multicenter, Open Label Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to Primary BH4 Deficiency

Tetrahydrobiopterin Deficiencies;Hyperphenylalaninemia, Non-Phenylketonuric

Drug: Phenoptin

BioMarin Pharmaceutical

NULL

Completed

N/A

All

Phase 2

United States;Germany

No.

TrialID

Date_
enrollment

Date_
registration

Public_title

Scientific_title

Condition

Intervention

Primary_
sponsor

Secondary_
sponsor

Recruitment_
Status

Inclusion_
agemin

Inclusion_
agemax

Inclusion_
gender

Target_
size

Phase

Countries

EUCTR2005-003778-13-DE
(EUCTR)

13/07/2006

14/06/2006

A Phase 2, Multicenter, Open-label Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Hyperphenylalaninemia Due to Primary BH4 Deficiency

Phenylketonuria (PKU)
MedDRA version: 8.1;Level: LLT;Classification code 10034872;Term: Phenylketonuria

Product Name: Phenoptin
Product Code: T1401
INN or Proposed INN: Sapropterin
Other descriptive name: saproterin dihydrochloride

BioMarin Pharmaceutical Inc

NULL

Not Recruiting

Female: yes
Male: yes

Phase 2

Germany

EUCTR2006-000648-15-AT
(EUCTR)

08/06/2006

05/04/2006

A double-blind, placebo-controlled, multicentre study with an open-label extension to evaluate the efficacy and safety of tetrahydrobiopterin (BH4) in children and adolescents with hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency

Hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. Phenotypes: classic phenylketonuria (PKU), mild PKU (MPK) or mild hyperphenylalaninemia (HPA).
MedDRA version: 81;Level: LLT;Classification code 10034873

Product Name: tetrahydrobiopterin
Product Code: BH4
INN or Proposed INN: Sapropterin
Other descriptive name: n.a.

ORPHANETICS Pharma Entwicklungs- GmbH

NULL

Authorised-recruitment may be ongoing or finished

Female: yes
Male: yes

Austria

NCT00260000
(ClinicalTrials.gov)

April 2005

30/11/2005

Study of BH4, a New and Simple Treatment of Mild PKU

Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation

Phenylketonuria

Drug: 5,6,7,8-tetrahydrobiopterin

The Kennedy Institute-National Eye Clinic

Sygekassernes Helsefond

Completed

8 Years

N/A

Both

Phase 2

Denmark

NCT00244218
(ClinicalTrials.gov)

April 2005

25/10/2005

Response to Phenylketonuria to Tetrahydrobiopterin (BH4)

Phenylketonuria

Drug: tetrahydrobiopterin (BH4)

FDA Office of Orphan Products Development

NULL

Recruiting

10 Years

N/A

Both

Phase 1

United States

NCT00104247
(ClinicalTrials.gov)

March 2005

24/2/2005

Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

Phenylketonurias

Drug: sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin

BioMarin Pharmaceutical

NULL

Completed

8 Years

N/A

All

Phase 3

United States

No.

TrialID

Date_
enrollment

Date_
registration

Public_title

Scientific_title

Condition

Intervention

Primary_
sponsor

Secondary_
sponsor

Recruitment_
Status

Inclusion_
agemin

Inclusion_
agemax

Inclusion_
gender

Target_
size

Phase

Countries

EUCTR2004-002365-21-DK
(EUCTR)

03/11/2004

09/07/2008

Trial with BH4, a new and simple treatment of phenylketonuria, PKU - BH4 and PKU

PKU, phenylketonuria, is a rare, inherited metabolic disease that results in mental retardation if not a very strict low-protein diet is started within the first weeks of life. The conversion of phenylalanine to tyrosine is defect, phe accumulates and leads to brain damage. There are different degrees of severity, reflecting the spectrum of mutant genes. BH4, tetrahydrobiopterin, is co-enzym for the conversion of phe to tyrosine. BH4 can lower phe in some patients with milder forms of PKU.

Product Name: tetrahydrobiopterin

John F. Kennedy Institute

NULL

Not Recruiting

Female: yes
Male: yes

Denmark