PKU Clinical Trials

苯丙酮尿症(PKU)是一种由苯丙氨酸羟化酶(PAH)缺乏引起的遗传性代谢紊乱。.

Learn about our PKU clinical trials below.

BMN 307

Studies

Study 307-201 Active, Not Recruiting

A Phase 1/2 Open-Label, Dose Escalation Study to Determine the Safety and Efficacy of BMN 307, an Adeno-Associated Virus Vector-Mediated Gene Transfer of Human Phenylalanine Hydroxylase in Subjects with Phenylketonuria and Plasma Phe Levels > 600 µmol/L

Indication

Phenylketonuria (PKU)

Goal

This open label, two part study aims to establish dose and efficacy, safety, and tolerability of BMN 307

Investigational therapeutic

BMN 307

Status

Active, Not Recruiting

Study Type

Phase 1/ 2

Study 307-902 Active, Not Recruiting

A Prospective Clinical Study of Phenylketonuria (PKU)

Indication

Phenylketonuria (PKU)

Goal

本研究的目的是收集纵向数据，评估PKU受试者≥14岁的疾病标志物和临床结果.

Status

Active, Not Recruiting

Study Type

Observational

Pegvaliase

Studies

Study 165-508 Recruiting

A Multicentre, 观察性研究评估Pegvaliase (BMN 165)在德国苯丙酮尿症患者中的实际结果

Indication

Phenylketonuria (PKU)

Goal

In addition to the efficacy and safety profile of pegvaliase that has been established in clinical trials; there remains an important need to provide data to prescribers and the phenylketonuria (PKU) community on the real-world usage of pegvaliase, and associated outcomes, 以支持临床实践优化，并提供更多的了解重要的临床问题在北京大学

Investigational therapeutic

Pegvaliase (BMN 165)

Status

This study is currently recruiting participants

Study Type

Phase 4

Study 165-306 Recruiting

一项3期多中心研究，评估皮下注射Pegvaliase对青少年苯丙酮尿症患者(12-17岁)的安全性和有效性，采用开放标签随机双组(主动对照与饮食对照)设计

Indication

Phenylketonuria (PKU)

Goal

评估Pegvaliase (BMN 165)作为诱导/滴定和维持剂量方案在PKU青少年患者中的安全性和有效性.

Investigational therapeutic

Pegvaliase (BMN 165)

Status

This study is currently recruiting participants

Study Type

Phase 3

Study 165-305 Active, Not Recruiting

A Phase 3, Open-Label, 多中心研究评估Pegvaliase (BMN 165)在日本18岁及以上苯丙酮尿症患者中的安全性和有效性

Indication

Phenylketonuria (PKU)

Goal

该研究的主要目的是评估Pegvaliase (BMN 165)作为诱导/滴定和维持剂量方案在日本≥18岁PKU患者中的有效性和安全性.

Investigational therapeutic

Pegvaliase (BMN 165)

Status

This study is ongoing, but not recruiting participants.

Study Type

Phase 3

Study 165-304 Complete

An Open-label Extension Study to Evaluate the Safety and Efficacy of Subcutaneous Injections of Pegvaliase (> 40mg/day Dose) in Adults with Phenylketonuria.

Indication

Phenylketonuria (PKU)

Goal

Evaluate long-term safety and efficacy of Pegvaliase in (> 40mg/day dose) in adults with PKU

Investigational therapeutic

Pegvaliase, rAvPAL-PEG or BMN 165

Status

Phase 3

Study Type

This study has been completed

Study 165-302 Complete

A Four-Part, Phase 3, Randomized, Double-Blind, Placebo-Controlled, Four-Arm, 苯丙酮尿症患者自行皮下注射BMN 165的疗效和安全性的停药研究

Indication

Phenylketonuria (PKU)

Goal

BMN 165临床开发项目旨在证明BMN 165在降低成人PKU患者血液Phe浓度方面的安全性和有效性

Investigational therapeutic

Pegvaliase, rAvPAL-PEG or BMN 165

Status

This study has been completed

Study Type

Phase 3

Study PAL-003 Complete

Long-term Extension of a Phase 2, Open-Label Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous Doses of rAvPAL-PEG in Subjects with PKU

Indication

Phenylketonuria (PKU)

Goal

Evaluate the long-term safety, 对难以控制和维持Phe水平的PKU患者注射一种研究药物的耐受性和有效性

Investigational therapeutic

Pegvaliase, rAvPAL-PEG or BMN 165

Status

This study has been completed

Study Type

Phase 2

Study 165-205 Complete

A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients with Phenylketonuria for 24 Weeks

Indication

Phenylketonuria (PKU)

Goal

评估多次皮下(SC)剂量的rAvPAL-PEG给药方案在降低PKU患者超敏反应的频率和严重程度的同时，诱导早期和持续的Phe减少的效果

Investigational therapeutic

Pegvaliase, rAvPAL-PEG or BMN 165

Status

This study has been completed

Study Type

Phase 2

Study PAL-004 Complete

A Phase 2, Open-Label Study to Evaluate the Safety, Tolerability, and Efficacy of Subcutaneous Dose Levels of Ravpal-PEG Administered Daily in Subjects with Phenylketonuria

Indication

Phenylketonuria (PKU)

Goal

评价每日给药rAvPAL-PEG对降低PKU患者血Phe浓度的影响

Investigational therapeutic

Pegvaliase, rAvPAL-PEG or BMN 165

Status

This study has been completed

Study Type

Phase 2

Study 165-301 Complete

A Phase 3, Open-Label, Randomized, Multi-Center Study to Assess the Safety and Tolerability of an Induction, Titration, 未接受过Pegvaliase治疗的苯丙酮尿症患者自行给予Pegvaliase的维持剂量方案

Indication

Phenylketonuria (PKU)

Goal

评估过去未接受过Pegvaliase的PKU患者注射研究药物(也称为PEG PAL)的安全性和耐受性

Investigational therapeutic

Pegvaliase, rAvPAL-PEG or BMN 165

Status

This study has been completed

Study Type

Phase 3

Sapropterin dihydrochloride (BMN 162)

Studies

Study KOGNITO – 162-502 Complete

Sapropterin dihydrochloride’s (BMN 162) Effect on the Cognition of Children With Phenylketonuria

Indication

Phenylketonuria (PKU)

Goal

A Phase IV Open-Label, 4 ~ 5岁苯丙酮尿症患儿接受盐酸沙普霉素(BMN 162)治疗7年的长期神经认知结局单队列研究

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase 4

Study KAMPER – 162-501 Complete

盐酸沙丙霉素(bmn162)治疗苯丙酮尿(PKU)或BH4缺乏(KAMPER)所致高苯丙氨酸血症(HPA)的长期安全性观察研究

Indication

Phenylketonuria (PKU)

Goal

Assess the long-term safety in subjects treated with Sapropterin dihydrochloride (BMN 162)

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase IV, Observational

Study PKUDOS Complete

Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry

Indication

Phenylketonuria (PKU), Hyperphenylalaninaemia

Goal

Evaluate the safety of long-term treatment with Sapropterin dihydrochloride (BMN 162)

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase IV, Observational

Study SPARK – 162-503 Complete

Sapropterin dihydrochloride (BMN 162) in Phenylketonuria Patients Less Than 4 Years Old

Indication

Phenylketonuria (PKU)

Goal

评价盐酸沙普蝶呤(BMN 162) +限Phe饮食治疗26周后提高膳食Phe耐受性的效果, as compared to dietary therapy alone in =120 to <360 μmol/L).

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase 3b

Study 162-015 Complete

评估盐酸沙普霉素(BMN 162)对神经认知功能影响的3b期开放标签研究, Maintenance of Blood Phenylalanine Concentrations, Safety, and Population Pharmacokinetics in Young Children with Phenylketonuria

Indication

Phenylketonuria (PKU)

Goal

Primary Objective -评估在筛查时0 - 6岁开始使用盐酸沙普霉素(BMN 162)保护苯丙酮尿症(PKU)患儿神经认知功能的长期疗效. Secondary Objectives – To evaluate the long-term safety of Sapropterin dihydrochloride (BMN 162) in the study population -评价盐酸沙普霉素(bmn162)对研究人群生长参数的影响

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase 4

Study PKU-003 Complete

评价盐酸沙普霉素(bmn162)治疗苯丙氨酸水平升高的苯丙酮尿症患者的安全性和有效性的研究

Indication

Phenylketonuria (PKU)

Goal

评价盐酸沙普霉素(bmn162)降低苯丙酮尿患者血液中苯丙氨酸(Phe)水平的疗效

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase 3

Study PKU-016 Complete

A Double-blind, Placebo-controlled, 评价盐酸沙普霉素对苯丙酮尿患者神经精神症状的安全性和疗效的随机研究

Indication

Phenylketonuria (PKU)

Goal

评价盐酸沙普蝶呤治疗PKU患者神经精神症状的安全性和疗效

Investigational therapeutic

Sapropterin dihydrochloride (BMN 162)

Status

This study has been completed

Study Type

Phase 3