CBLC ONLUS FROM THE BEGINNING UNTIL NOW:

History, Activities and Aims

www.cblc.it

THE BEGINNINGS

Set up of cblC Onlus 11 March 2017

5 founder families coming from North to South of Italy

Italian families spread out in several regions

DISTRIBUTION OF THE FAMILIES IN ITALY

Tot. 49 families

43 italian families

5 spanish families

1 italo-american

DISTRIBUTION OF THE FAMILIES IN THE WORLD

PATIENTS BREAKDOWN BY MRC

Total patients: 50

2 families with 2 sons affected by cblC

2

1

1

1

2

1

4

2

1

16

9

2

5

1

1

1

1

0 2 4 6 8 10 12 14 16 18

Azienda Ospedaliera Universitaria Federico II (NA)

Hospital Clínico Universitario de Santiago (E)

Hospital Sant Joan de Deu (E)

Ospedale Vittorio Emanuele (CT)

Hospital Virgen del Rocío (E)

Ospedale Besta (MI)

Ospedale Gaslini (GE)

Ospedale Maggiore Policlinico Universitario (MI)

Ospedale Microcitemico di Cagliari (CA)

Ospedale Pediatrico Bambino Gesù (RM)

Ospedale Pediatrico Meyer (FI)

Ospedale Pediatrico Salesi (AN)

Ospedale San Gerardo (MB)

Ospedale Umberto I (RM)

Rady's children hospital di San Diego (USA)

UniversitätsKlinikum Heidelberg (D)

Vera-Hospital Universitario Cruses (E)

Tot. patients: 51 2 families with 2 children affected by cblC

Source: associated families

Patients breakdown by gender Patients breakdown by age

PATIENTS BREAKDOWN BY GENDER AND AGE

MALE 65%

FEMALE 35%

Source: associated families

Weighted average

Patients breakdown by NBS Patients breakdown by onset

PATIENTS BREAKDOWN BY NBS AND ONSET

[CATEGORY NAME]

[PERCENTAGE]

[CATEGORY NAME]

[PERCENTAGE]

[CATEGORY NAME]

[PERCENTAGE]

NO NBS 75%

Source: associated families

COGNITIVE AND LANGUAGE IMPAIRMENT

0

2

4

6

8

10

12

14

16

SEVERE MODERATE MILD NONE

15

9

15

12

0

1

2

3

4

5

6

7

8

9

Late onset NBS

3

9

Source: associated families

VISUAL DYSFUNCTION

0

5

10

15

20

25

30

35

MACULARDEGENERATION

OTHER VISUALIMPAIRMENT

(without m.d)

NONE

31

7

13

MACULAR DEGENERATION

OTHER VISUAL IMPAIRMENT (withoutm.d)

NONE

Source: associated families

Visual dysfunction Cognitive and language impairment

NBS SUB-CLUSTER

0

1

2

3

4

5

6

7

8

9

SEVERE MODERATE MILD NONE

0 0

4

9

0

1

2

3

4

5

6

7

MACULARDEGENERATION

OTHER VISUALIMPAIRMENT

(without m.d)

NONE

6

0

7

Source: associated families

NBS SUB CLUSTER – breakdown by age

<1 1 2 3 4 5 6 7 8 9

2

0

3

2

0

2

1

0

1

2

NU

M

AGE

Source: associated families

Weighted average

INFORMATIVE SUPPORT TO THE FAMILIES

RELATIONSHIP WITH INSTITUTIONS AND NETWORKS

CONTACT WITH MEDIA

SETTING UP OF A TECHNICAL AND SCIENTIFIC COMMITTEE

INVOLVEMENT IN DRAFTING AN INFORMATIVE NOTE ON NBS

FUNDRAISING ACTIVITIES

MAIN ACTIVITIES CARRIED OUT

INFORMATIVE SUPPORT TO THE FAMILIES

Informative support has been provided to the associated families:

Giving out updating on the scientific research and on therapeutic perspectives for the disease.

Collecting particular requests and needs linked mostly to the different regional regulations

Sharing experiences and relative information on the practical management of the disease itself

MAIN ACTIVITIES CARRIED OUT (cont’d)

RELATIONSHIP WITH INSTITUTIONS AND NETWORKS

CNMR (National Rare Diseases Centre)

ORPHANET (The portal for rare diseases and orphan drugs)

FONDAZIONE TELETHON’S NETWORK OF ASSOCIATIONS

AMR (Rare diseases alliance)

UNIAMO (Italian Rare diseases Federation)

MAIN ACTIVITIES CARRIED OUT (cont’d)

RELATIONSHIP WITH INSTITUTIONS AND NETWORKS MAIN ACTIVITIES CARRIED OUT (cont’d)

INVOLVEMENT IN DRAFTING AN INFORMATIVE NOTE ON NEWBORN SCREENING

RELATIONSHIP WITH INSTITUTIONS AND NETWORKS MAIN ACTIVITIES CARRIED OUT (cont’d)

CBLC ONLUS PARTICIPATED AT RDD 2018 WITH AWARENESS INITIATIVES AIMED AT INVOLVING SCHOOLS

CONTACT WITH THE MEDIA: AWARENESS-RAISING ACTIVITIES ON B12

https://www.osservatoriomalattierare.it/sportello-legale-omar-dalla-parte-dei-rari/13979-deficit-di-cobalamina-c-per-i-piccoli-pazienti-le-iniezioni-sono-un-incubo-si-lotta-per-ridurle

MAIN ACTIVITIES CARRIED OUT (cont’d)

Cblc onlus and OMAR (Osservatorio Malattie Rare) collaborated together to bring to the attention of the relevant stakeholders an issue related to the supply of a foreign medicine not registered in Italy

The doctors who are appointed to be part of the Scientific Committee are: Dr. Carlo Dionisi Vici: Division of Metabolic

Diseases at Bambino Gesù Hospital – Rome (Coordinator)

Dr. Diego Martinelli: Division of Metabolic Diseases at Bambino Gesù Hospital – Rome

Dr. Giorgia Olivieri: Division of Metabolic Diseases at Bambino Gesù Hospital – Rome

Dr. Giancarlo Parenti: Division of Metabolic Diseases at Federico II Hospital - Naples

Dr. Maria Alice Donati: Division of Metabolic Diseases at Meyer Hospital - Florence

SETTING UP OF A TECHNICAL AND SCIENTIFIC COMMITTEE MAIN ACTIVITIES CARRIED OUT (cont’d)

FUNDRAISING ACTIVITIES TO SUPPORT RESEARCH PROJECTS

MAIN ACTIVITIES CARRIED OUT (cont’d)

PRIVATE INDIVIDUALS

CORPORATES

OTHER CHARITY ORGANIZATIONS

FAMILIES EXPECTATIONS QUESTIONNAIRE

Families have been given a questionnaire to bring out their expectations in terms of scientific research, social & healthcare services and therapy.

43 questionnaires were returned

93% of respondents were represented by patients’ parents, 2% by siblings, 5% by the patients themselves

Breakdown of respondents

5% 2%

93%

Patient

Brother/sister

Parents

Performed by the support of psychologist Alessia Cuccurullo

Support by the State in improving the quality of life in terms of social & healthcare services (*)

FAMILIES EXPECTATIONS QUESTIONNAIRE (cont’d)

Usefulness of supporting projects aimed at improving the quality of life in terms of social &

healthcare services (*)

(*) Scale from 1 (lowest score) to 5 (highest score)

7%

37%

[PERCENTAGE]

12%

9%

Not at all

Slightly

Moderately

very

Extremely

2% 14%

[PERCENTAGE]

Moderately

Very

Extremely

Invasiveness of the therapy*

FAMILIES EXPECTATIONS QUESTIONNAIRE (cont’d)

(*) Scale from 1 (lowest score) to 5 (highest score)

63% of respondents reported the current available therapy is very or extremely invasive

Main expected improvements related to: dosage and frequency of shots

[PERCENTAGE]

12%

16%

49%

14%

Not at all

Slightly

Moderate

Very

Extremely

Usefulness of supporting research projects *

FAMILIES EXPECTATIONS QUESTIONNAIRE (cont’d)

Usefulness of supporting a specific registry on cblc to share common approaches for diagnosis &

treatment *

(*) Scale from 1 (lowest score) to 5 (highest score)

9%

91%

very

extremely useful

2% 9%

14%

75%

Slightly

Moderately

Very

Extremely

Priority among social & healthcare services, research and therapy

FAMILIES EXPECTATIONS QUESTIONNAIRE (cont’d)

60% of respondents reported the research is the most important field which it should be invested in

21% in activities aimed at improving the management of the theraphy

19% in social & healthcare servises

19%

60%

21%

health care services

research

therapy

OUR GOALS

TO ENCOURAGE THE PRODUCTION OF AN ADEQUATE FORMULATION OF B12

TO SUPPORT THE RESEARCH PROMOTING AND FINANCING SPECIFIC PROJECTS ON CBLC

TO SUPPORT THE SET UP/ EVOLUTION OF A SPECIFIC REGISTRY ON CBLC TO SHARE COMMON APPROACHES FOR DIAGNOSIS & TREATMENT

TO CONTINUE PROVIDING SUPPORT TO THE FAMILIES

“We cannot direct the wind but we can adjust the sails”