Overview
Sponsor-declared trial summary
LRBA deficiency due homozygous nonsense mutations. It is a rare genetic disorder of the immune system caused by mutation in LRBA gene. This disease results in excessive number of immune cells calls lymphocytes ,autoimmunity, low levels of antibodies and recurrent infections. Excess of lymphocytes caused a variety of symptoms, the infiltration is most commun in the gut, lungs, and brain. LRBA deficiency (called LATAIE disease) may increase a person's risk of lymphoma, a type of cancer.
a. Clinical efficacy of Ataluren in normalizing lymphoproliferative symptom of LRBA deficiency (including lymphoproliferation, chronic diarrhea and ascites) b. Clinical tolerability of Ataluren in the single LRBA deficient patient.
Key facts
- Sponsor
- Centre Hospitalier Universitaire De Liege
- Participant type
- Patients
- Age range
- 18-64 years
- Gender
- Male
- Therapeutic area
- Diseases [C] - Immune System Diseases [C20]
- Trial duration
- 9 Jul 2021 → 31 Jul 2025
- Decision date (initial)
- 2024-11-04
- Transition trial
- Yes
- Low-intervention
- No
- Rare-disease indication
- Yes
- Vulnerable population
- No
External identifiers
- EU CT number
- 2024-518919-19-00
- EudraCT number
- 2021-003004-41
Trial design
CTIS Part I — objectives, methods, condition coding
Main objective
Scope: Therapy, Efficacy, Safety
a. Clinical efficacy of Ataluren in normalizing lymphoproliferative symptom of LRBA deficiency (including lymphoproliferation, chronic diarrhea and ascites)
b. Clinical tolerability of Ataluren in the single LRBA deficient patient.
Secondary objectives 1
- Efficacy of Ataluren in vivo expression of LRBA and membrane expression of CTLA4. Efficacy of Ataluren on classical biomarkers of LRBA deficiency such percentage of follicular T helper cells and soluble CD25
Conditions and MedDRA coding
LRBA deficiency due homozygous nonsense mutations. It is a rare genetic disorder of the immune system caused by mutation in LRBA gene. This disease results in excessive number of immune cells calls lymphocytes ,autoimmunity, low levels of antibodies and recurrent infections. Excess of lymphocytes caused a variety of symptoms, the infiltration is most commun in the gut, lungs, and brain. LRBA deficiency (called LATAIE disease) may increase a person's risk of lymphoma, a type of cancer.
Eligibility criteria
Principal inclusion / exclusion criteria as submitted by sponsor
Inclusion criteria 1
- Single patient protocol: LRBA deficiency to homzygous nonsense mutations
Exclusion criteria 1
- Not applicable
Endpoints
Primary and secondary outcome measures (English text)
Primary endpoints 1
- In comparison with a pre treatment period of five years improvement of quality of life, weight, diarrhea episode and number of hospitalisations
Secondary endpoints 1
- Expression of LRBA by PBMC, normalisation of CTLA4 expression of CD4 T cells. Normalisation of soluble CD25 and follicular T helper cells
Investigational products
Investigational medicinal products (IMPs), comparators, placebo, auxiliary
Test 2
Translarna 250 mg granules for oral suspension
PRD1622983 · Product
- Active substance
- Ataluren
- Substance synonyms
- PTC-124, 3-(5-(2-FLUOROPHENYL)-1,2,4-OXADIAZOL-3-YL)BENZOIC ACID
- Pharmaceutical form
- ORAL SUSPENSION
- Route of administration
- ORAL
- Max daily dose
- 2 g gram(s)
- Max total dose
- 2 g gram(s)
- Max treatment duration
- 60 Month(s)
- Authorisation status
- Authorised
- ATC code
- M09AX03 — -
- Marketing authorisation
- EU/1/13/902/002
- MA holder
- PTC THERAPEUTICS INTERNATIONAL LIMITED
- MA country
- EU
- Paediatric formulation
- No
- Orphan designation
- Yes
- Orphan designation number
- EU/3/05/278
- Modified vs. Marketing Authorisation
- No
Translarna 1000 mg granules for oral suspension
PRD1622984 · Product
- Active substance
- Ataluren
- Substance synonyms
- PTC-124, 3-(5-(2-FLUOROPHENYL)-1,2,4-OXADIAZOL-3-YL)BENZOIC ACID
- Pharmaceutical form
- ORAL SUSPENSION
- Route of administration
- ORAL
- Max daily dose
- 2 g gram(s)
- Max total dose
- 2 g gram(s)
- Max treatment duration
- 60 Month(s)
- Authorisation status
- Authorised
- ATC code
- M09AX03 — -
- Marketing authorisation
- EU/1/13/902/003
- MA holder
- PTC THERAPEUTICS INTERNATIONAL LIMITED
- MA country
- EU
- Paediatric formulation
- No
- Orphan designation
- Yes
- Orphan designation number
- EU/3/05/278
- Modified vs. Marketing Authorisation
- No
Sponsors and contacts
Sponsor organisations, regulatory contacts, third parties
Centre Hospitalier Universitaire De Liege
- Sponsor organisation
- Centre Hospitalier Universitaire De Liege
- Address
- Avenue De L'hopital 1
- City
- Liege
- Postcode
- 4000
- Country
- Belgium
Scientific contact point
- Organisation
- Centre Hospitalier Universitaire De Liege
- Contact name
- Michel Moutschen
Public contact point
- Organisation
- Centre Hospitalier Universitaire De Liege
- Contact name
- Michel Moutschen
Locations
1 EU/EEA country · 1 investigational sites
By country
| Country | MS status | Planned subjects | Sites |
|---|---|---|---|
| Belgium | Ended | 1 | 1 |
| Rest of world | — | 0 | — |
Investigational sites
Country notifications
Trial-start, recruitment-start, end and early-termination notifications submitted per Member State
| Country | Trial start | Trial end | Recruitment start | Recruitment end | Early termination |
|---|---|---|---|---|---|
| Belgium | 2021-07-09 | 2021-07-28 |
Results and documents
Annex IV summary of results, Annex V layperson summary, and all documents registered in CTIS for this trial
Documents 5 files
Public protocol annexes, IB summaries, regulatory submissions and post-authorisation documents registered in CTIS.
| Type | Title | Version |
|---|---|---|
| Protocol (for publication) | D1_Protocol_2024-518919-19-00 | 2 |
| Recruitment arrangements (for publication) | K1_recruitment arrangement | 1 |
| Subject information and informed consent form (for publication) | L1_ICF | 2 |
| Summary of Product Characteristics (SmPC) (for publication) | Blank document | 1 |
| Summary of Product Characteristics (SmPC) (for publication) | Blank document | 1 |
Application history
1 submissions — initial application plus substantial / non-substantial modifications
| # | Type | Code | Submitted | Reference MS | Conclusion | Decision date |
|---|---|---|---|---|---|---|
| 1 | INITIAL | IN | 2024-10-15 | Belgium | Acceptable 2024-11-04
|
2024-11-04 |