DDrare: Database of Drug Development for Rare Diseases

Searched query = "Phenylketonuria", "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.

Drug = 5,6,7,8-tetrahydrobiopterin; 6R-BH4; Amino acids; BH4; BMN 165; BMN 165 (rAvPAL-PEG); BMN 307; BMN165 20mg/day; BMN165 40mg/day; Behavioral: Neuro-psychological Assessment; Behavioral: Restricted phenylalanine diet; Behavioral: phenylalanine restricted diet; CDX; CDX 6114; CNSA-001; Cohort 1 0.225g; Cohort 2 0.75g; Cohort 3 2.25 g; Corn; Corn/soy oil; Diagnostic Test: Whole body Phe oxidation testing; Diet; Dietary Supplement for PKU patients; Docosahexaenoic Acid; Docosahexaenoic acid; Free amino acids intake; Glycomacropeptide-based protein substitute; High oleic sunflower oil; Immunosuppression; KUVAN; Kuvan; Kuvan 100mg soluble tablet; KuvanTM Therapy; Kuvan®; Kuvan® (sapropterin dihydrochloride); Large Neutral Amino Acid Therapy; Low calorie protein substitute; Microalgal oil; Moxifloxacin; N.a.; NAP; Other: Diet; Other: Diet treatment; Other: Liver Evaluation; Other: Meal Challenge; Other: Normal (control) diet; Other: Phenylalanine (Phe)-restricted diet; Other: Routine; PEG; PEGVALIASE; PKU Explore; PKU Sphere; PKU Start; PKU sphere; Palynziq; Pegvaliase; Phe; Phenoptin; Phenylalanine; Phenylalanine restricted diet; Phenylalanine-free protein substitute in tablet form (XPhe minis); Phenylalanine-free protein substitute tablets; Phenylketonuria-type diet; Procedure: Hepatocyte Transplant; Procedure: Liver Biopsy; Protein intake; RAvPAL-PEG; RAvPAL-PEG 0.001 mg/kg; RAvPAL-PEG 0.003 mg/kg; RAvPAL-PEG 0.01 mg/kg; RAvPAL-PEG 0.03 mg/kg; RAvPAL-PEG 0.1 mg/kg; RTX; RTX-134; Radiation: Preparative Radiation Therapy; SAPROPTERIN; SAPROPTERIN DIHYDROCHLORIDE; SAPROPTERIN HYDROCHLORIDE; SYNB1618; Sapropterin; Sapropterin (Kuvan); Sapropterin Dihydrochloride; Sapropterin Dihydrocholoride; Sapropterin dihydrochloride; Sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin; Sapropterin hydrochloride; Sapropterin, sapropterin dihydrochloride; Sapropterin, sapropterin hydrochloride; Sapropterindihydrochloride; Saproterin dihydrochloride; Sunflower oil; Synergy; T1401; Tetrahydrobiopterin; Tetrahydrobiopterin (BH4)

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	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
2	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

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

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

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