Clinical trials: Hereditary Tyrosinemia
Tyrosinemias, Alkaptonuria
Evaluation of TYR Sphere
For 28 days, 20 patients with tyrosinaemia will take TYR sphere as part of the usual dietary management of their condition. Patients will record their adherence to recommended intakes each day, gastrointestinal symptoms (if any)…
- Conditions
- Tyrosinemias, Alkaptonuria, Tyrosinemia, Type I, Tyrosinemia, Type II
- Trial name
- NCT04196959
- Testing
- TYR sphere
- Where
- 2 sites in United Kingdom
- Volunteers
- 18 people
- Sponsor
- Vitaflo International, Ltd
Tyrosinemia, Type I, Tyrosinemia, Type II
Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of Zero minis, a range of protein substitute tablets for use in the dietary management of children with either TYROSINAEMIA…
- Conditions
- Tyrosinemia, Type I, Tyrosinemia, Type II, Tyrosinemia, Type III, Alkaptonuria
- Trial name
- ZeroMinisMR (NCT06298292)
- Testing
- Zero minis (range of protein substitutes in tablet form)
- Volunteers
- 15 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Hereditary Tyrosinemia, Type I
Bio Equivalency 20 Mgm Orfadin and 20 Mgm of Nitisonine
he purpose of this study is to determine whether Nitisinone 10 mg Tablets (Test Product are bioequivalent to the reference product Orfadin 10 mg
- Trial name
- Orfadin (NCT04113772)
- Testing
- Nitisinone, Orfadin
- Where
- India
- Volunteers
- 4 people
- Sponsor
- Sutphin Drugs
Tyrosinosis, Hepatorenal Tyrosinemia
Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Tyrosinemia type 1 from blood (plasma)
- Conditions
- Tyrosinosis, Hepatorenal Tyrosinemia, Fumarylacetoacetase Deficiency, Fah Deficiency
- Trial name
- BioTyrosin (NCT03284658)
- Where
- 3 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
PKU, Tyrosinemias
GMP Case Studies of Tolerance, Safety and Acceptability in PKU and TYR
Three new protein substitutes have been developed to help with compliance in PKU and TYR patients, which are powdered protein substitutes, low in Phe and, low in Phe and Tyr respectively, with a mixed balance of glycomacropeptide…
- Trial name
- NCT05062226
- Testing
- PKU/TYR GMP Protein Substitute
- Where
- United Kingdom
- Volunteers
- 45 people
- Sponsor
- Nutricia UK Ltd
Hereditary Tyrosinemia, Type I
Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)
The purpose of this study is to compare the bioavailability of the Test Product, Nitisinone 10 mg Tablet, under fasting and fed conditions (food-effect).
- Trial name
- NCT02750332
- Testing
- Nitisinone
- Where
- South Africa
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Cycle Pharmaceuticals Ltd.
Hereditary Tyrosinemia, Type I
A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients
This is a prospective, non-interventional, non-comparative, multicenter study to collect data on HT-1 patients in China treated with Nitisinone in a routine clinical setting. No tests or examinations are mandated in the study.
- Trial name
- NCT06227429
- Testing
- Nitisinone
- Where
- 4 sites in China
- Sponsor
- Swedish Orphan Biovitrum
Hereditary Tyrosinemia, Type I
Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)
The purpose of this study is to determine whether Nitisinone 10 mg Tablets (Test Product 1) and Nitisinone 10 mg Tablets 'Baked' for 6 months @ 40°C/75% RH (Test Product 2) are bioequivalent to the reference product Orfadin 10 mg…
- Trial name
- NCT02750345
- Testing
- Nitisinone, Nitisinone Baked Tablet, Orfadin
- Where
- South Africa
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Cycle Pharmaceuticals Ltd.
Tyrosinemia I
Study of NTBC for Tyrosinemia I
OBJECTIVES: I. Assess the safety and efficacy of NTBC in children with tyrosinemia I. II. Evaluate the effects of NTBC on survival, rate of neurologic crises, improvement in renal tubular damage, reduction in the need for liver…
- Trial name
- NCT00004443
- Testing
- NTBC
- Where
- 3 sites in United States, Canada
- Volunteers
- 20 people
- Sponsor
- University of Washington
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Tyrosinemia, AKU
Evaluation of TYR Sphere in France
10 participants aged 3 years and over with tyrosinaemia or alkaptonuria will be prescribed Tyr sphere following an assessment of their individual needs by their dietitian.
- Trial name
- TYR sphere Fra (NCT04761588)
- Testing
- Tyr sphere
- Where
- France
- Volunteers
- 14 people
- Sponsor
- Vitaflo International, Ltd
Hereditary Tyrosinemia, Type I
Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care
The purpose of this study is to look at the long term safety profile of Orfadin treatment in patients suffering from hereditary tyrosinemia type 1 (HT-1).
- Trial name
- OPAL (NCT02320084)
- Testing
- Nitisinone
- Where
- 77 sites in Austria, Belgium and 15 more
- Volunteers
- 315 people
- Sponsor
- Swedish Orphan Biovitrum
Hereditary Tyrosinemia, Type I
Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin
The purpose of this study is to determine whether Nitisinone 10 mg Tablets (Test Product 1 (TP1)) and Nitisinone 10 mg Tablets High Compritol (Test Product 2 (TP2)) are bioequivalent to the reference product Orfadin 10 mg…
- Trial name
- NCT02750709
- Testing
- Nitisinone, Nitisinone 10 mg Tablet High Compritol, Orfadin
- Where
- South Africa
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Cycle Pharmaceuticals Ltd.
Hereditary Tyrosinemia, Type I
Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1
The purpose of this study is to look at the steady-state serum concentrations of nitisinone when switching from twice daily and once daily dosing.
- Trial name
- HT-1 (NCT02323529)
- Testing
- Nitisinone
- Where
- 6 sites in Belgium, Denmark and 3 more
- Volunteers
- 18 people
- Sponsor
- Swedish Orphan Biovitrum
Phenylketonurias, PKU
Evaluation of the Express Plus Range
A prospective, open label, acceptability study to evaluate PKU, MSUD, HCU, TYR and GA express plus in the dietary management of 40 patients with IEM.
- Conditions
- Phenylketonurias, PKU, Homocystinuria, Maple Syrup Urine Disease
- Trial name
- express plus (NCT05051657)
- Testing
- PKU express plus
- Where
- 6 sites in United Kingdom
- Volunteers
- 28 people
- Sponsor
- Vitaflo International, Ltd
Tyrosinemia, Type I
Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I
OBJECTIVES: Assess whether 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) at 0.6 mg/kg per day prevents liver failure in at least 1 patient with tyrosinemia type I.
- Trial name
- NCT00004333
- Testing
- NTBC
- Sponsor
- National Center for Research Resources (NCRR)
Hereditary Tyrosinemia, Type I
Taste and Palatability of Orfadin Suspension
The purpose of this study is to verify that pediatric patients, especially those who are not old enough to swallow capsules, accept the taste and palatability of a new suspension.
- Trial name
- NCT01734889
- Testing
- Nitisinone
- Where
- 7 sites in France, Germany and 1 more
- Volunteers
- 18 people
- Sponsor
- Swedish Orphan Biovitrum
Phenylketonuria, Tyrosinemia
GMP Powdered Substitutes in PKU and TYR
Four new GMP-based protein substitutes have been developed to support the dietary management of PKU and TYR. These products are powdered protein substitutes, low in phenylalanine and low in phenylalanine and tyrosine…
- Trial name
- NCT06941532
- Testing
- GMP Intervention Product
- Where
- United Kingdom
- Volunteers
- 40 people
- Sponsor
- Nutricia UK Ltd